Variant ID | 13733 |
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Entrez Gene ID | 9442 |
Gene | MED27 (GeneCards) |
Location | hg19 9:134784326-134784326
hg38 9:131908939-131908939 |
Disease | Cockayne syndrome (view all the variants in this disease) |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000009.11:g.134784326 G>A (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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Position in protein | NA |
Amino acid changes in protein | NA > NA |
Position in cDNA | NA |
Changes in cDNA | NA > NA |
mRNA accession | NA |
mRNA length | NA |
Reference length | 141213431 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.0532 |
CADD Raw score (version 1.3) | 0.663992 (Deleterious) |
FATHMM raw prediction score | 0.22104 (Tolerated) |
Deleterious probability by DeFine | 0.1037 (Neutral) |
Entrez Gene ID | 9442 (NCBI Gene) |
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Official Gene Symbol | MED27 (GeneCards) |
Number of variants in MED27 in this database | 5 (view all the variants) |
Full name | mediator complex subunit 27 |
Band | 9q34.13 |
Other IDs | Vega: OTTHUMG00000020833 OMIM: 605044 HGNC: HGNC:2377 Ensembl: ENSG00000160563 |
Other names | MED3, CRSP8, CRAP34, CRSP34, TRAP37 |
Summary | The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011] |
Individual ID | 29217584.21 (view all the variants in this individual) |
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Pubmed ID | 29217584 |
Whose mosaic mutation | Male Patient |
Phenotype | 3 |
Disease | Cockayne syndrome (view all the variants in this disease) |
OMIM ID | 216400 |
Pubmed ID | 29217584 |
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Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
Journal | Science |
Publication date | 2018.02 |
Disease | Cockayne syndrome Xeroderma Pigmentosum |
Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |